Varaico: Literature-Extracted Genetic Variants

SCN9A

740 papers

RefSeq Summary

This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associat...

Pfam Domains

Ion_transaa 125–412UCSCIon transport protein

Na_trans_cytoplaa 535–694UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 743–978UCSCIon transport protein

Na_trans_assocaa 982–1187UCSCSodium ion transport-associated

Ion_transaa 1191–1468UCSCIon transport protein

Ion_transaa 1514–1771UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 9

HGNC Alias Symbols

Nav1.7; PN1; NE-NA; NENA; ETHA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365536.1

p.Q265*

c.793C>T

Surrounding Variants

1 paper

NM_001365536.1

p.Q265P

c.794A>C

1 paper

NM_001365536.1

p.Q265H

c.795G>C

1 paper

NM_001365536.1

p.L266V

c.796C>G

6 papers

NM_001365536.1

p.L266M

c.796C>A

1 paper

NM_001365536.1

p.F267Y

c.800T>A

1 paper

NM_001365536.1

p.A260A

c.780A>T

1 paper

NM_001365536.1

p.N270fs

c.808_809fs

6 papers

NM_001365536.1

p.N270D

c.808A>G

1 paper

NM_001365536.1

p.N270S

c.809A>G

3 papers

NM_001365536.1

p.V258_F259delFs

c.774_775delAC

1 paper

NM_001365536.1

p.F259fs

c.775_776fs

1 paper

NM_001365536.1

p.N270insFs

c.810dupC